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Level of evidence:Find:Pt:Bld/Tiss:Nom: - CISMeF
Level of evidence:Find:Pt:Bld/Tiss:Nom:LOINC code
Preferred Label : Level of evidence:Find:Pt:Bld/Tiss:Nom:;
LOINC status : ACTIVE;
LOINC display name : Level of evidence Nom (Bld/Tiss);
LOINC long common name : Level of evidence;
LOINC short name : Level of evidence;
LOINC description : In the interpretation of sequence variants, standard terminology is used to describe
the level of evidence that supports the association between a particular genetic variant
and a particular disorder or disease state. Three example answer lists for levels
of evidence are listed below but we recognize that a local terminology may also be
used based on other factors such as population, type of data studied, etc. The example
answer list associated with this term is that given by the American College of Medical
Genetics, but depending on the use case, other lists may be just as appropriate. American
College of Medical Genetics [https://www.acmg.net/docs/standards_guidelines_for_the_interpretation_of_sequence_variants.pdf]
Very strong evidence pathogenic Strong evidence pathogenic Moderate evidence pathogenic
Supporting evidence pathogenic Supporting evidence benign Strong evidence benign Stand-alone
evidence pathogenic Stand-alone evidence benign Uncertain significance PharmGKB CPIC
Clinical Annotation Levels of Evidence [https://www.pharmgkb.org/page/clinAnnLevels]
Level 1A High Level 1B High Level 2a Moderate Level 2b Moderate Level 3 Low Level
4 Preliminary AMP guidelines to be used for Somatic Variant Interpretation/Reporting
(list has meaning for Therapeutic, Diagnostic, and Prognostic uses as further described
in the reference). [https://jmd.amjpathol.org/article/S1525-1578(16)30223-9/pdf] Tier
1 Level A - (Strong Clinical Significance) FDA-approved therapy and/or included in
professional guidelines. Tier 1 Level B - (Strong Clinical Significance) Well-powered
studies with consensus from experts in the field. Tier 2 Level C - (Potential Clinical
Significance) FDA-approved therapies for different tumor types or investigational
therapies, multiple small published studies with some consensus. Tier 2 Level D -
(Potential Clinical Significance) Preclinical trials or a few case reports without
consensus. Tier 3 - (Unknown Clinical Significance) Not observed at a significant
allele frequency in general or specific subpopulation databases or pan-cancer or tumor-specific
variant databases, no convincing published evidence of cancer association. Tier 4
- (Benign or Likely Benign) Observed at significant allele frequency in the general
or specific subpopulation databases and no existing published evidence of cancer association.;
Has component